Submissions for variant NM_031885.5(BBS2):c.1110T>C (p.Ala370=)

gnomAD frequency: 0.00389  dbSNP: rs148990271

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000152836	SCV000202232	benign	not specified	2014-04-29	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000589907	SCV000699647	benign	not provided	2016-01-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086074	SCV001001543	benign	Bardet-Biedl syndrome	2024-12-24	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000152836	SCV002066326	benign	not specified	2021-11-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000589907	SCV002545796	benign	not provided	2022-05-01	criteria provided, single submitter	clinical testing	BBS2: BP4, BP7, BS1, BS2
Fulgent Genetics, Fulgent Genetics	RCV002492570	SCV002803623	likely benign	Bardet-Biedl syndrome 2; Retinitis pigmentosa 74	2021-07-21	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000589907	SCV005292121	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000589907	SCV002034215	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000589907	SCV002038105	likely benign	not provided		no assertion criteria provided	clinical testing